Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007294.4

p.P706A

c.2116C>G

Surrounding Variants

2 papers

NM_007294.4

p.L702_A705del4

c.2104_2114del12

2 papers

NM_007294.4

p.P706L

c.2117C>T

1 paper

NM_007294.4

p.A705fs

c.2113_2114fs

2 papers

NM_007294.4

p.A705delFs

c.2114delG

1 paper

NM_007294.4

p.S689_A705delFs

c.2067_2113del47

2 papers

NM_007294.4

p.A705S

c.2113G>T

1 paper

NM_007294.4

p.G707C

c.2119G>T

2 papers

NM_007294.4

p.G707R

c.2119G>C

1 paper

NM_007294.4

p.G707S

c.2119G>A

1 paper

NM_007294.4

p.A705T

c.2113G>A

1 paper

NM_007294.4

p.P706delFs

c.2118delA

1 paper

NM_007294.4

p.R691_N704del14

c.2071_2111del42